A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749185



Internal ID9983469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64992632..64992988hg38UCSC Ensembl
Outerchr1:65458315..65458671hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871747, essv6844210, essv6961634
SamplesSSM027, SSM091, SSM011
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2749185
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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